{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(2)"],"submitter":["Asiri A"],"pubmed_abstract":["CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the <i>CDC42</i> gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual. Clinical examinations revealed poor wound healing, heterotopia of the brain, pancytopenia, and recurrent infections. Whole exome sequencing revealed a de novo missense variant (c.101C > A, p.Pro34Gln) in the <i>CDC42</i> gene. The functional assays revealed a substantial reduction in the growth and motility of the patient cells "],"journal":["Genes"],"pagination":["294"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7923796"],"repository":["biostudies-literature"],"pubmed_title":["Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo <i>CDC42</i> Gene Defect: Expanding the Molecular and Phenotypic Spectrum."],"pmcid":["PMC7923796"],"pubmed_authors":["Asiri A","Alwadaani D","Al Ghasham N","Al Abdulrahman A","Alsalamah M","Umair M","Alhamoudi KM","Almuhanna MH","Alrfaei BM","Alyafee Y","Ballow M","Al-Ajaji S","Al Suwairi W","Barhoumi T","Aldrees M","Almuzzaini B","Alhaidan Y","Al Tuwaijri A","Nasir A","Alfadhel M","Alayyar L"],"additional_accession":[]},"is_claimable":false,"name":"Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo <i>CDC42</i> Gene Defect: Expanding the Molecular and Phenotypic Spectrum.","description":"CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the <i>CDC42</i> gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual. Clinical examinations revealed poor wound healing, heterotopia of the brain, pancytopenia, and recurrent infections. Whole exome sequencing revealed a de novo missense variant (c.101C > A, p.Pro34Gln) in the <i>CDC42</i> gene. The functional assays revealed a substantial reduction in the growth and motility of the patient cells ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Feb","modification":"2026-04-07T19:04:56.518Z","creation":"2021-03-05T09:12:20Z"},"accession":"S-EPMC7923796","cross_references":{"pubmed":["33672558"],"doi":["10.3390/genes12020294"]}}